Clark Rosie, He Xi, Nguyen Thu Nga, Bui Thanh Huyen, Noor Hannah, Williams Cathy, Terry Louise, Guggenheim Jeremy A
School of Optometry & Vision Sciences, Cardiff University, Cardiff, United Kingdom.
https://orcid.org/0000-0003-1247-4636.
Invest Ophthalmol Vis Sci. 2025 Aug 1;66(11):60. doi: 10.1167/iovs.66.11.60.
The prevalence of myopia varies significantly across the globe. This may be a consequence of differences in exposure to lifestyle risk factors or differences in genetic susceptibility across ancestry groups. "Trans-ancestry genetic correlation" quantifies the similarity in genetic predisposition to a trait or disease between different populations. We estimated the trans-ancestry genetic correlation of refractive error across Europeans, South Asians, East Asians, and Africans using recently developed approaches.
Two methods were applied: (1) trans-ancestry genetic correlation with unbalanced data resources (TAGC-UDR) and (2) trans-ancestry bivariate genomic-relatedness-based restricted maximum-likelihood (TAB-GREML). TAGC-UDR analyses were carried out for UK Biobank participants of European (n = 3500), East Asian (n = 972), South Asian (n = 4303), and African (n = 3877) ancestry. TAB-GREML analyses were carried out for participants of European (n = 10,000), South Asian (n = 4303), and African (n = 3877) ancestry.
TAGC-UDR analyses suggested the trans-ancestry genetic correlation of refractive error was in the range 0.7-1.0 for the European versus African, European versus East Asian, and European versus South Asian ancestry pairs. The TAB-GREML estimates were consistent with the TAGC-UDR findings. Precision of the estimates was limited, reflecting the modest sample sizes of the non-European samples.
These results support and extend previous work suggesting that genetic susceptibility to refractive error is largely shared across Europeans, Africans, and South Asians. This suggests geographical differences in myopia prevalence are mostly driven by lifestyle factors or rare genetic variants not considered in the current work.
全球近视患病率差异显著。这可能是生活方式风险因素暴露差异或不同祖先群体遗传易感性差异所致。“跨祖先遗传相关性”量化了不同人群对某一性状或疾病的遗传易感性相似性。我们使用最新开发的方法估计了欧洲人、南亚人、东亚人和非洲人屈光不正的跨祖先遗传相关性。
应用了两种方法：（1）基于不平衡数据资源的跨祖先遗传相关性（TAGC-UDR）和（2）基于跨祖先双变量基因组相关性的受限最大似然法（TAB-GREML）。对欧洲（n = 3500）、东亚（n = 972）、南亚（n = 4303）和非洲（n = 3877）血统的英国生物银行参与者进行了TAGC-UDR分析。对欧洲（n = 10,000）、南亚（n = 4303）和非洲（n = 3877）血统的参与者进行了TAB-GREML分析。
TAGC-UDR分析表明，欧洲与非洲、欧洲与东亚、欧洲与南亚血统对之间屈光不正的跨祖先遗传相关性在0.7-1.0范围内。TAB-GREML估计结果与TAGC-UDR的发现一致。估计的精度有限，反映出非欧洲样本的样本量较小。
这些结果支持并扩展了先前的研究工作，表明欧洲人、非洲人和南亚人对屈光不正的遗传易感性在很大程度上是共同的。这表明近视患病率的地理差异主要由生活方式因素或当前研究未考虑的罕见遗传变异驱动。
